title: Splicing mutation causes infantile Sandhoff disease.
authors.affiliation: Istituto Biologia e Genetica, Università di Verona, Italy. macarena@borgoroma.univr.it
authors.forename: M
authors.initials: M
authors.lastname: Gomez-Lira
authors.forename: C
authors.initials: C
authors.lastname: Perusi
authors.forename: M
authors.initials: M
authors.lastname: Mottes
authors.forename: P F
authors.initials: PF
authors.lastname: Pignatti
authors.forename: N
authors.initials: N
authors.lastname: Rizzuto
authors.forename: R
authors.initials: R
authors.lastname: Gatti
authors.forename: A
authors.initials: A
authors.lastname: Salviati
mesh_terms: D017398:Alternative Splicing / Q000235:genetics*; D015152:Blotting, Northern; D004247:DNA / Q000097:blood / Q000302:isolation & purification; D017809:Fatal Outcome; D005260:Female; D006801:Humans; D007223:Infant; D009154:Mutation / Q000235:genetics*; D010375:Pedigree; D012313:RNA / Q000097:blood / Q000302:isolation & purification; D012497:Sandhoff Disease / Q000201:enzymology / Q000235:genetics*; D001619:beta-N-Acetylhexosaminidases / Q000235:genetics
chemical_list: D012313:RNA; D004247:DNA; D001619:beta-N-Acetylhexosaminidases